Details of Disease

General Information of Disease (ID: DISK0GCG)

• Disease Name: Autosomal recessive spinocerebellar ataxia 11
• Synonyms: spinocerebellar ataxia, autosomal recessive 11; autosomal recessive cerebellar ataxia-psychomotor retardation syndrome; autosomal recessive spinocerebellar ataxia 11; SCAR11; spinocerebellar ataxia, autosomal recessive type 11; SYT14 autosomal recessive syndromic cerebellar ataxia; autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14; autosomal recessive spinocerebellar ataxia type 11
• Definition: Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.
• Disease Hierarchy:
  DISGMOMI: Autosomal recessive syndromic cerebellar ataxia
  DISK0GCG: Autosomal recessive spinocerebellar ataxia 11
• Disease Identifiers:
  MONDO ID: MONDO_0013645
  UMLS CUI: C5190803
  OMIM ID: 614229
  MedGen ID: 1681191
  Orphanet ID: 284271
  SNOMED CT ID: 783060009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SYT14	OTE1V1OW	Supportive	Autosomal recessive	[1]

References

• [1] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet. 2011 Aug 12;89(2):320-7. doi: 10.1016/j.ajhg.2011.07.012.